Ask about this productRelated genes to: NEDD4L Blocking Peptide
- Gene:
- NEDD4L NIH gene
- Name:
- NEDD4 like E3 ubiquitin protein ligase
- Previous symbol:
- -
- Synonyms:
- KIAA0439, RSP5, NEDD4-2
- Chromosome:
- 18q21.31
- Locus Type:
- gene with protein product
- Date approved:
- 2000-03-14
- Date modifiied:
- 2019-04-04
Related products to: NEDD4L Blocking Peptide
Related articles to: NEDD4L Blocking Peptide
- Modifier genes may cause different clinical phenotypes in patients with long QT syndrome (LQTS) carrying the same pathogenic variant. Variants in the MTMR4 gene have been previously associated, via patient-specific cardiomyocytes derived from induced pluripotent stem cells, with variable arrhythmic risk in a family with the p.Y111C-LQT1 mutation. This study aimed to evaluate the broader clinical impact of MTMR4 variants in patients with LQT1 and LQT2. - Source: PubMed
Publication date: 2026/05/13
Schwartz Peter JWinbo AnnikaSala LucaCrotti LiaMusu GiuliaDagradi FedericaGiovenzana Fulvio L FDragani Davide FSimonyté Sjödin KotrynaLundström JennyAlberio ChiaraPedrazzini MatteoNearing Bruce DRydberg AnnikaTse Hung-FatBadilini FabioVerrier Richard LSpazzolini CarlaGnecchi Massimiliano - - Source: PubMed
Publication date: 2026/05/05
Tang MinXue LuotongWang BaoJiang ZhixinLi PuBu HengtaoZhao ChesongZhang YurongLiu ShuaimeiChen XiyuanLiu BianjiangMeng XiaoxinLi Jie - ObjectiveGenome-wide association studies have identified over 80 loci associated with nonsyndromic orofacial cleft (NSOC), yet substantial heritability remains unexplained. Insights from syndromic orofacial cleft (SOC) implicated genes could help bridge this gap.DesignA case-control association study in a Han Chinese cohort was conducted to evaluate the association between SOC-implicated genes and NSOC subtypes using association, linkage disequilibrium (LD), and haplotype analyses.SettingTertiary medical center.Patients, ParticipantsThe study included 1626 cases of non-syndromic cleft lip with or without cleft palate, 930 cases of non-syndromic cleft palate only, and 2255 controls.InterventionsPeripheral blood (cases) and umbilical cord blood (controls) were collected for DNA extraction.Main Outcome MeasuresAllelic (Pearson' s , 1 df) and genotypic (Pearson' s , 2 df) associations between SNPs and NSOC subtypes were evaluated, with odds ratios (ORs) and 95% confidence intervals (CIs). LD and sliding-window haplotype association analyses were performed in Haploview. SNPs with minor allele frequency (MAF) >0.05 and in Hardy-Weinberg equilibrium in controls were analyzed. The significance threshold was < 1.27 × 10 after Bonferroni correction.ResultsAllelic analysis identified 23 SNPs that were significantly associated with NSOC subtypes (lowest = 2.02 × 10). Genotypic analysis identified 39 significant SNPs (lowest = 1.09 × 10). Signals mapped to 7 genes. Haplotype analyses revealed a shared causal variant block at and , and allelic heterogeneity at .ConclusionsWe identified , , and as NSOC-associated genes. Using SOC genes as prior knowledge reveals loci missed by standard GWAS, offering key insights into NSOC pathogenesis. - Source: PubMed
Publication date: 2026/05/04
You YueLin Yan-SongJia Si-XuanZhang Si-DiSun Jia-LinShi BingJia Zhong-Lin - Liver fibrosis is characterized by excessive extracellular matrix deposition and hepatic stellate cell (HSC) activation, driven by chronic liver injury and inflammation. Macrophages play dual roles in fibrogenesis; the dynamic balance between pro-fibrotic and anti-fibrotic subsets is critical in determining the progression or regression of the disease. NEDD4L, an E3 ubiquitin ligase, is well-known to be involved in cell biological processes by promoting protein degradation, yet its role in macrophages and liver fibrosis remains poorly understood. - Source: PubMed
Publication date: 2026/03/17
He YanghuanGe ShujunLing ShijiaYang SitingYang FeiranLiu XinyiDong SiyueChen YingfenZhang ZilingZhou YueHwang SeonghwanKim Seung-JinWang PengHe YongChen Yuanwen - Seizure is one of the common comorbidities in Alzheimer's disease (AD). Seizures in AD have been shown to occur more often with early-onset disease, particularly when there is a familial presenilin I (PS1) mutation or abnormal expression of amyloid precursor protein (APP). AD patients with seizures have been associated with a faster decline in cognitive functions. However, it remains unclear how seizures exacerbate neurodegeneration in AD. Here, we showed that, using a kainic acid-induced acute seizure model, mitochondrial function is enhanced and the reactive oxygen species (ROS) are reduced in the brain of wild-type (WT) mice but not in an AD mouse model, APP/PS1 mice. These data suggest a lack of protective mechanism following seizures in APP/PS1 mice. Mechanistically, we found that an E3 ubiquitin ligase, the neural precursor cell-expressed developmentally downregulated protein 4-like (Nedd4-2), is elevated but stays dephosphorylated in APP/PS1 mice upon seizure inductions. Immunocytochemistry and sub-cellular fractionation experiments demonstrate an interaction between Nedd4-2 and mitochondria. Unbiased proteomics analysis suggests that Nedd4-2 regulates the expression of multiple mitochondrial proteins including one of the key mitochondrial outer membrane proteins, Mitofusin 2 (MFN2). Upon seizure induction, Nedd4-2 exhibits elevated interaction with mitochondria and downregulates MFN2 in APP/PS1 mice but not in WT mice. These data suggest that seizures aggravate mitochondrial dysfunction in AD, and Nedd4-2, which acts as a negative mitochondrial regulator, contributes to this effect. Altogether, our findings illustrate a potential mechanism by which seizures exacerbate neurodegeneration in AD and suggest Nedd4-2 as a novel therapeutic target for AD patients with comorbid seizures. - Source: PubMed
Wang YingxinZhu JiuheLizarazo SimonLee Kwan YoungWong OliviaAzim SophiaYook YeeunKumar VipendraTsai Nien-Pei